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rs794728300

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs794728300(-;-)
Make rs794728300(-;TG)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48497296
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728300
dbSNP (classic)rs794728300
ClinGenrs794728300
ebirs794728300
HLIrs794728300
Exacrs794728300
Gnomadrs794728300
Varsomers794728300
LitVarrs794728300
Maprs794728300
PheGenIrs794728300
Biobankrs794728300
1000 genomesrs794728300
hgdprs794728300
ensemblrs794728300
geneviewrs794728300
scholarrs794728300
googlers794728300
pharmgkbrs794728300
gwascentralrs794728300
openSNPrs794728300
23andMers794728300
SNPshotrs794728300
SNPdbers794728300
MSV3drs794728300
GWAS Ctlgrs794728300
Max Magnitude0

aka c.2262_2263delTG

ClinVar
Risk rs794728300(-;-)
Alt rs794728300(-;-)
Reference Rs794728300(TG;TG)
Significance Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48789493_48789494delCA
CLNSRC
CLNACC RCV000181655.2,